PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Hypocalcemic seizure due to congenital rickets in the first day of life. ( Turk J Pediatr. 2007 Jul-Sep;49(3):301-3.). Authors are Erdeve O Atasay B Arsan S et al., from the Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey. Congenital rickets is considered a rare disease entity in the newborn period. Hypocalcemic seizure due to congenital rickets has been reported, but this symptom generally appears at the earliest at the end of the first month of life. A congenital rickets case presented unusually with seizure on the first day of life. Despite improved prenatal care offered today, congenital rickets still occurs. It seems that vitamin D deficiency in the neonate secondary to maternal deficiency should be a consideration for the pediatrician or neonatologist caring for newborns. Physicians should be aware of risk factors that can trigger the development of this condition. To access the full abstract of the article, click here.
Publications
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Rituximab for acute plasma-refractory thrombotic thrombocytopenic purpura. A case report and concise review of the literature (Swiss Med Wkly. 2007 Sep 22;137(37-38):518-24). Authors are Rüfer A Brodmann D Gregor M et al., from the Division of Haematology, Department of Medicine, Kantonsspital Luzern, Luzern. Thrombotic thrombocytopenic purpura (TTP) is a rare disease which responds well to plasma exchange treatment in the majority of patients. We report on a patient with acute TTP caused by severe autoantibody-mediated ADAMTS-13 deficiency, in whom remission was not achieved by initial treatment consisting of plasma exchange (PE), plasma infusion and corticosteroids, followed by vincristine and splenectomy.In view of the ongoing activity of TTP, treatment was initiated with rituximab, a chimaeric monoclonal antibody directed against the CD 20 antigen present on B lymphocytes.Three weeks after the last infusion of rituximab a complete clinical and laboratory remission of this first episode of acute refractory TTP was documented. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Acrokeratoelastoidosis treated with the erbium:YAG laser. ( Clin Exp Dermatol. 2007 Nov 5). Authors are Erbil AH Sezer E Koç E et al., from the Pathology, Gulhane Military School of Medicine, Ankara, Turkey. Acrokeratoelastoidosis is a rare skin disorder characterized by grouped, small, firm, translucent papules distributed on the margins of the hands and feet. We report a 21-year-old white patient with acrokeratoelastoidosis in whom Er:YAG laser surgery was carried out, resulting in a slight post-treatment improvement of the disease with slight flattening of the lesions. No clinical recurrence of the lesions developed during the 6 months of follow-up. We suggest that Er:YAG laser surgery of acrokeratoelastoidosis may be considered as a treatment option. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Does MALT lymphoma of the lung require immediate treatment? (Anticancer Res. 2007 Sep-Oct;27(5B):3633-7.). Authors are Troch M Streubel B Petkov V et al., from the Department of Internal Medicine I, Division of Oncology, Medical University of Vienna, Austria. Mucosa-associated lymphoid tissue lymphoma (MALT lymphoma) of the lung is a relatively rare disease. As little is known about the natural clinical course if left untreated, all patients undergoing a watch-and-wait policy at our institution were investigated.Our findings suggest that MALT lymphoma of the lung is a very indolent disease with the potential for spontaneous regression. In view of this, patients diagnosed with pulmonary MALT lymphoma might not require immediate treatment in the absence of symptoms and a watch-and-wait policy could be adopted. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Tackling rare diseases at European level.” (Folia Med (Plovdiv). 2007;49(1-2):59-67). Authors are Taruscio D, Trama A and Stefanov R, from the National Centre Rare Diseases, Istituto Superiore di Sanità, Roma. Since 1999 the European Commission has gradually developed a proactive approach towards rare diseases (RD). Despite the progress made over the last years, a comprehensive and evidence based approach is still missing in many EU Member States (MS), leading to an incomplete and often inadequate framework to address rare diseases. Healthcare systems in EU MS differ to great extent among countries in respect to their organization and funding. In general, they are not ready to face the specific problems and needs of people with rare diseases for possible prevention, timely diagnosis, adequate treatment and rehabilitation. It is therefore important to develop a strategic plan. So far only France has developed a national strategic plan for rare diseases, Bulgaria is in the process of approving its national plan for RD and Spain is in the process of developing it. The three MS initiatives presented in this paper confirmed the availability of great experiences and expertises among many EU MS and supported the idea that all these different experiences available at the EU level should form the basis for developing recommendations on how to develop strategic plans for RD. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Asymptomatic thyroid tuberculosis in a multinodular goitre patient: a case report. (Acta Chir Belg. 2007 Jul-Aug;107(4):457-9.). Authors are Girgin S Gedik E Büyükbayram H. from the Department of General Surgery,School of Medicine, University of Dicle, Diyarbakir, Turkey. Thyroid tuberculosis is a very rare disease of the thyroid gland. In recent years, the incidence of extra-pulmonary tuberculosis has been showing a progressive increase. We present the case of a 41-year old female patient, operated for an asymptomatic multinodular goiter, and who had a histopathological diagnosis of thyroid tuberculosis. Thyroid tuberculosis should be kept in mind in the differential diagnosis of thyroid nodules, even in patients with no history and no symptom of tuberculosis disease. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled hereditary angioedema: a case study (J Neurosci Nurs. 2007 Oct;39(5):311-5). Author is Vacca VM Jr. from the Neuroscience Intensive Care Unit, Brigham and Women’s Hospital, Boston, MA, USA. Hereditary angioedema (HAE) is an autosomal dominant trait. It manifests as attacks of swelling involving the extremities, trunk, abdominal viscera, face, neck, or airway. The attacks may occur spontaneously, without any identifiable trigger, or may be the result of a specific trigger, such as a minor tissue trauma.Treatment for an acute attack is largely supportive, including administration of epinephrine and antihistamines to maintain a patent, reliable airway. Shortterm prophylaxis includes fresh frozen plasma and corticosteroids. Long-term prophylaxis includes use of androgens and antifibrinolytics, as well as the avoidance of known triggers. Prior to the advent of such therapies, mortality from an acute attack of HAE was reported as high as 30%. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Squamous cell carcinoma of the nasal columella: a retrospective study of 66 cases from the GETTEC (Eur Arch Otorhinolaryngol. 2007 Oct 26). Authors are Choussy O Babin E Temam S et al., from the ENT Department, Rouen University Hospital, 1, rue de Germont, 76031, Rouen, France. Squamous cell carcinoma of the nasal columella (SCCNC) is a rare disease.Medical records of 66 patients presenting with columella squamous cell carcinoma in nine French hospitals, from 1980 to 2003, were evaluated to determine the clinical characteristics and current treatment of the disease. Patients underwent one of the three treatments: surgery alone for the T1 lesions, radiotherapy for tumors of T2-T3 and combined (surgery and radiotherapy) for T4 lesions. The 5-year Kaplan-Meier survival test was 39% and no difference was found between the therapeutic groups. SCCNC is difficult to manage and has a poor prognosis. No therapeutic solution has yet been confirmed in the treatment of this pathology. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Focal Epithelial Hyperplasia (Actas Dermosifiliogr. 2007 Nov;98(9):621-623.). Authors are Vera-Iglesias E García-Arpa M Sánchez-Caminero P et al., from the Servicio de Dermatología. Hospital General de Ciudad Real, Spain. Focal epithelial hyperplasia is a rare disease of the oral mucosa caused by the human papilloma virus (HPV). It appears as a benign epithelial growth, usually in the mucosa of the lower lip. It is mainly associated with HPV serotypes 13 and 32 and there is a clear racial predilection for the disease in Native Americans and Eskimos. We describe the case of a 17-year-old girl from Ecuador with multiple papular lesions in both lips that were clinically and histologically consistent with focal epithelial hyperplasia. Analysis by polymerase chain reaction detected HPV serotype 13. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Non-compaction on autopsy in Duchenne muscular dystrophy (Cardiology. 2007;108(3):161-3. Epub 2006 Oct 23). Authors are Finsterer J Stöllberger C Feichtinger H from the Krankenanstalt Rudolfstiftung, Vienna, Austria. Left ventricular hypertrabeculation (LVHT) is frequently associated with neuromuscular disorders. Recently, LVHT has been detected in a 28-year patient with Duchenne muscular dystrophy. Here, the patho-anatomic findings of this patient are presented, which showed LVHT located within in the apex and the anterior and lateral wall, being the most demanded segments during systole. The septum and the left ventricular outflow tract were not involved. The patho-anatomic specimen also showed aberrant bands and false tendons, a frequent finding in hearts with LVHT. The patho-anatomic findings were in line with those of LVHT patients with or without neuromuscular disorders To access the full abstract of the article, click here.